Neurodegeneration with Brain Iron Accumulation (NBIA) is a rare inherited neurological movement disorder that is characterized by progressive
degeneration of the nervous system. NBIA Type 1 (NBIA-1) and Type 2 (NBIA-2) are caused
by one or more genetic mutations that result in iron being deposited in regions of
the brain that control movement and balance; the most common mutation involves the
PANK2 gene. Symptoms of this disease usually develop during childhood, and may include
distorting muscle contractions of the limbs, face or trunk; involuntary writhing muscle
movements, coordination difficulties, difficulty swallowing or speaking, confusion,
disorientation, seizures, visual impairment, and dementia.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: The diagnosis of NBIA is based on medical and family history, and neurologic exam.
Neurologic signs include parkinsonism, abnormal postures and movements (dystonia),
ataxia, muscle rigidity, spasticity, and cognitive impairment. MRI of the brain can
be helpful to demonstrate the accumulation of iron in the basal ganglia. Although
there are laboratory tests for the genetic mutations of NBIA-1 and NBIA-2, they are
expensive and not widely available.

ICD-9: 333.0

ONSET AND PROGRESSION

NBIA usually begins between 7 and 15 years of age, although it may also present earlier
(infantile onset) or later (adult onset). The severity and rate of progression correlates
with the age at onset, especially in infants and young children. Symptoms and signs
such as dystonia and spasticity eventually limit the ability to walk, and usually
progress to the use of a wheel chair by mid-teens. Life expectancy is variable, but
the average survival after diagnosis is 10-12 years. Death can occur secondary to
dystonia, impaired swallowing, and aspiration pneumonia.

TREATMENT

There is currently no cure for NBIA. Treatment is symptomatic and supportive. Iron
chelating medications have been attempted without significant effect. Individuals
may benefit somewhat from pharmacological therapy for specific symptoms, such as rigidity.
Physical, speech, and occupational therapies can also help with activities of daily
living.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for evaluation:

•

Longitudinal clinical history and examination that describe diagnostic features, family
history, and neurologic exam.

•

Imaging studies such as an MRI.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

Meets Listing

11.17

12.02

111.17

112.02

Medical Equals

11.06

* Adjudicators may, at their discretion, use the Medical Evidence of Record or Listings
suggested to evaluate the claim. However, the decision to allow or deny the claim
rests with the adjudicator.